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Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533351.1:p.[Leu81_Ala88delinsAlaAsp;Leu90Arg;Ala92_Val95delinsHisAlaSer;Tyr97_Arg99delinsProSerGly;Glu101_Lys103delinsAla;Lys105_Glu110delinsGlyLeuProGluThr]
CA912980097
XM_011535049.2:c.240dup